Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56894510C>A | CA622340471 | SLC12A3 | c.2522-21C>A (n.2522-21C>A) c.2519-21C>A (n.2519-21C>A) c.2549-21C>A (n.2549-21C>A) c.2546-21C>A (n.2546-21C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894510C= | CA2224361199 | SLC12A3 | c.2522-21C= (n.2522-21C=) c.2519-21C= (n.2519-21C=) c.2549-21C= (n.2549-21C=) c.2546-21C= (n.2546-21C=) | |
16 | g.56894510C>G | CA2224361198 | SLC12A3 | c.2522-21C>G (n.2522-21C>G) c.2519-21C>G (n.2519-21C>G) c.2549-21C>G (n.2549-21C>G) c.2546-21C>G (n.2546-21C>G) | dbSNP gnomAD v4 |
16 | g.56894511A= | CA2224361200 | SLC12A3 | c.2522-20A= (n.2522-20A=) c.2519-20A= (n.2519-20A=) c.2549-20A= (n.2549-20A=) c.2546-20A= (n.2546-20A=) | |
16 | g.56894511A>G | CA8069952 | SLC12A3 | c.2522-20A>G (n.2522-20A>G) c.2519-20A>G (n.2519-20A>G) c.2549-20A>G (n.2549-20A>G) c.2546-20A>G (n.2546-20A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894512C>A | CA2633374427 | SLC12A3 | c.2522-19C>A (n.2522-19C>A) c.2519-19C>A (n.2519-19C>A) c.2549-19C>A (n.2549-19C>A) c.2546-19C>A (n.2546-19C>A) | gnomAD v4 |
16 | g.56894512C= | CA2224361201 | SLC12A3 | c.2522-19C= (n.2522-19C=) c.2519-19C= (n.2519-19C=) c.2549-19C= (n.2549-19C=) c.2546-19C= (n.2546-19C=) | |
16 | g.56894512C>G | CA8069954 | SLC12A3 | c.2522-19C>G (n.2522-19C>G) c.2519-19C>G (n.2519-19C>G) c.2549-19C>G (n.2549-19C>G) c.2546-19C>G (n.2546-19C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894512C>T | CA8069953 | SLC12A3 | c.2522-19C>T (n.2522-19C>T) c.2519-19C>T (n.2519-19C>T) c.2549-19C>T (n.2549-19C>T) c.2546-19C>T (n.2546-19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894513G>A | CA8069955 | SLC12A3 | c.2522-18G>A (n.2522-18G>A) c.2519-18G>A (n.2519-18G>A) c.2549-18G>A (n.2549-18G>A) c.2546-18G>A (n.2546-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894513G>C | CA2633374433 | SLC12A3 | c.2522-18G>C (n.2522-18G>C) c.2519-18G>C (n.2519-18G>C) c.2549-18G>C (n.2549-18G>C) c.2546-18G>C (n.2546-18G>C) | gnomAD v4 |
16 | g.56894513G= | CA2224361202 | SLC12A3 | c.2522-18G= (n.2522-18G=) c.2519-18G= (n.2519-18G=) c.2549-18G= (n.2549-18G=) c.2546-18G= (n.2546-18G=) | |
16 | g.56894513G>T | CA622340479 | SLC12A3 | c.2522-18G>T (n.2522-18G>T) c.2519-18G>T (n.2519-18G>T) c.2549-18G>T (n.2549-18G>T) c.2546-18G>T (n.2546-18G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894516del | CA2633374432 | SLC12A3 | c.2522-15del (n.2522-15del) c.2519-15del (n.2519-15del) c.2549-15del (n.2549-15del) c.2546-15del (n.2546-15del) | ClinVar gnomAD v4 |
16 | g.56894514G>A | CA2633374435 | SLC12A3 | c.2522-17G>A (n.2522-17G>A) c.2519-17G>A (n.2519-17G>A) c.2549-17G>A (n.2549-17G>A) c.2546-17G>A (n.2546-17G>A) | gnomAD v4 |
16 | g.56894514G>C | CA281514239 | SLC12A3 | c.2522-17G>C (n.2522-17G>C) c.2519-17G>C (n.2519-17G>C) c.2549-17G>C (n.2549-17G>C) c.2546-17G>C (n.2546-17G>C) | dbSNP |
16 | g.56894514G= | CA2224361203 | SLC12A3 | c.2522-17G= (n.2522-17G=) c.2519-17G= (n.2519-17G=) c.2549-17G= (n.2549-17G=) c.2546-17G= (n.2546-17G=) | |
16 | g.56894514G>T | CA2576002281 | SLC12A3 | c.2522-17G>T (n.2522-17G>T) c.2519-17G>T (n.2519-17G>T) c.2549-17G>T (n.2549-17G>T) c.2546-17G>T (n.2546-17G>T) | |
16 | g.56894516G>A | CA8069956 | SLC12A3 | c.2522-15G>A (n.2522-15G>A) c.2519-15G>A (n.2519-15G>A) c.2549-15G>A (n.2549-15G>A) c.2546-15G>A (n.2546-15G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894516G= | CA2224361204 | SLC12A3 | c.2522-15G= (n.2522-15G=) c.2519-15G= (n.2519-15G=) c.2549-15G= (n.2549-15G=) c.2546-15G= (n.2546-15G=) | |
16 | g.56894516G>T | CA2697555874 | SLC12A3 | c.2522-15G>T (n.2522-15G>T) c.2519-15G>T (n.2519-15G>T) c.2549-15G>T (n.2549-15G>T) c.2546-15G>T (n.2546-15G>T) | ClinVar |
16 | g.56894517A>T | CA2633374437 | SLC12A3 | c.2522-14A>T (n.2522-14A>T) c.2519-14A>T (n.2519-14A>T) c.2549-14A>T (n.2549-14A>T) c.2546-14A>T (n.2546-14A>T) | gnomAD v4 |
16 | g.56894518C>A | CA2633374438 | SLC12A3 | c.2522-13C>A (n.2522-13C>A) c.2519-13C>A (n.2519-13C>A) c.2549-13C>A (n.2549-13C>A) c.2546-13C>A (n.2546-13C>A) | gnomAD v4 |
16 | g.56894520C>A | CA2633374439 | SLC12A3 | c.2522-11C>A (n.2522-11C>A) c.2519-11C>A (n.2519-11C>A) c.2549-11C>A (n.2549-11C>A) c.2546-11C>A (n.2546-11C>A) | gnomAD v4 |
16 | g.56894521T>C | CA8069957 | SLC12A3 | c.2522-10T>C (n.2522-10T>C) c.2519-10T>C (n.2519-10T>C) c.2549-10T>C (n.2549-10T>C) c.2546-10T>C (n.2546-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894521T= | CA2224361205 | SLC12A3 | c.2522-10T= (n.2522-10T=) c.2519-10T= (n.2519-10T=) c.2549-10T= (n.2549-10T=) c.2546-10T= (n.2546-10T=) | |
16 | g.56894522C>A | CA8069958 | SLC12A3 | c.2522-9C>A (n.2522-9C>A) c.2519-9C>A (n.2519-9C>A) c.2549-9C>A (n.2549-9C>A) c.2546-9C>A (n.2546-9C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894522C= | CA2224361206 | SLC12A3 | c.2522-9C= (n.2522-9C=) c.2519-9C= (n.2519-9C=) c.2549-9C= (n.2549-9C=) c.2546-9C= (n.2546-9C=) | |
16 | g.56894525T>A | CA2633374440 | SLC12A3 | c.2522-6T>A (n.2522-6T>A) c.2519-6T>A (n.2519-6T>A) c.2549-6T>A (n.2549-6T>A) c.2546-6T>A (n.2546-6T>A) | gnomAD v4 |
16 | g.56894527C>A | CA2633374441 | SLC12A3 | c.2522-4C>A (n.2522-4C>A) c.2519-4C>A (n.2519-4C>A) c.2549-4C>A (n.2549-4C>A) c.2546-4C>A (n.2546-4C>A) | gnomAD v4 |
16 | g.56894528C= | CA2224361207 | SLC12A3 | c.2522-3C= (n.2522-3C=) c.2519-3C= (n.2519-3C=) c.2549-3C= (n.2549-3C=) c.2546-3C= (n.2546-3C=) | |
16 | g.56894528C>T | CA281514263 | SLC12A3 | c.2522-3C>T (n.2522-3C>T) c.2519-3C>T (n.2519-3C>T) c.2549-3C>T (n.2549-3C>T) c.2546-3C>T (n.2546-3C>T) | dbSNP |
16 | g.56894529del | CA2573152456 | SLC12A3 | c.2522-2del (n.2522-2del) c.2519-2del (n.2519-2del) c.2549-2del (n.2549-2del) c.2546-2del (n.2546-2del) | ClinVar dbSNP |
16 | g.56894529A>C | CA395997208 | SLC12A3 | c.2522-2A>C (n.2522-2A>C) c.2519-2A>C (n.2519-2A>C) c.2549-2A>C (n.2549-2A>C) c.2546-2A>C (n.2546-2A>C) | ClinVar |
16 | g.56894529A>G | CA395997210 | SLC12A3 | c.2522-2A>G (n.2522-2A>G) c.2519-2A>G (n.2519-2A>G) c.2549-2A>G (n.2549-2A>G) c.2546-2A>G (n.2546-2A>G) | |
16 | g.56894529A>T | CA395997211 | SLC12A3 | c.2522-2A>T (n.2522-2A>T) c.2519-2A>T (n.2519-2A>T) c.2549-2A>T (n.2549-2A>T) c.2546-2A>T (n.2546-2A>T) | |
16 | g.56894530G>A | CA8069959 | SLC12A3 | c.2522-1G>A (n.2522-1G>A) c.2519-1G>A (n.2519-1G>A) c.2549-1G>A (n.2549-1G>A) c.2546-1G>A (n.2546-1G>A) | dbSNP ExAC gnomAD v2 |
16 | g.56894530G>C | CA395997213 | SLC12A3 | c.2522-1G>C (n.2522-1G>C) c.2519-1G>C (n.2519-1G>C) c.2549-1G>C (n.2549-1G>C) c.2546-1G>C (n.2546-1G>C) | |
16 | g.56894530G= | CA2224361208 | SLC12A3 | c.2522-1G= (n.2522-1G=) c.2519-1G= (n.2519-1G=) c.2549-1G= (n.2549-1G=) c.2546-1G= (n.2546-1G=) | |
16 | g.56894530G>T | CA395997215 | SLC12A3 | c.2522-1G>T (n.2522-1G>T) c.2519-1G>T (n.2519-1G>T) c.2549-1G>T (n.2549-1G>T) c.2546-1G>T (n.2546-1G>T) | |
16 | g.56894531G>A | CA395997216 | SLC12A3 | c.2522G>A (p.Gly841Asp) c.2519G>A (p.Gly840Asp) c.2549G>A (p.Gly850Asp) c.2546G>A (p.Gly849Asp) | |
16 | g.56894531G>C | CA395997217 | SLC12A3 | c.2522G>C (p.Gly841Ala) c.2519G>C (p.Gly840Ala) c.2549G>C (p.Gly850Ala) c.2546G>C (p.Gly849Ala) | |
16 | g.56894531G>T | CA395997218 | SLC12A3 | c.2522G>T (p.Gly841Val) c.2519G>T (p.Gly840Val) c.2549G>T (p.Gly850Val) c.2546G>T (p.Gly849Val) | |
16 | g.56894532C>A | CA495612724 | SLC12A3 | c.2523C>A (p.Gly841=) c.2520C>A (p.Gly840=) c.2550C>A (p.Gly850=) c.2547C>A (p.Gly849=) | |
16 | g.56894532C= | CA2224361209 | SLC12A3 | c.2523C= (p.Gly841=) c.2520C= (p.Gly840=) c.2550C= (p.Gly850=) c.2547C= (p.Gly849=) | |
16 | g.56894532C>G | CA495612725 | SLC12A3 | c.2523C>G (p.Gly841=) c.2520C>G (p.Gly840=) c.2550C>G (p.Gly850=) c.2547C>G (p.Gly849=) | |
16 | g.56894532C>T | CA495612726 | SLC12A3 | c.2523C>T (p.Gly841=) c.2520C>T (p.Gly840=) c.2550C>T (p.Gly850=) c.2547C>T (p.Gly849=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894533C>A | CA395997219 | SLC12A3 | c.2524C>A (p.Leu842Ile) c.2521C>A (p.Leu841Ile) c.2551C>A (p.Leu851Ile) c.2548C>A (p.Leu850Ile) | |
16 | g.56894533C>G | CA395997221 | SLC12A3 | c.2524C>G (p.Leu842Val) c.2521C>G (p.Leu841Val) c.2551C>G (p.Leu851Val) c.2548C>G (p.Leu850Val) | |
16 | g.56894533C>T | CA395997223 | SLC12A3 | c.2524C>T (p.Leu842Phe) c.2521C>T (p.Leu841Phe) c.2551C>T (p.Leu851Phe) c.2548C>T (p.Leu850Phe) | gnomAD v4 |
16 | g.56894534_56894535dup | CA2695223460 | SLC12A3 | c.2525_2526dup (p.Thr843SerfsTer24) c.2522_2523dup (p.Thr842SerfsTer24) c.2552_2553dup (p.Thr852SerfsTer24) c.2549_2550dup (p.Thr851SerfsTer24) | |
16 | g.56894534T>A | CA395997227 | SLC12A3 | c.2525T>A (p.Leu842His) c.2522T>A (p.Leu841His) c.2552T>A (p.Leu851His) c.2549T>A (p.Leu850His) | |
16 | g.56894534T>C | CA395997224 | SLC12A3 | c.2525T>C (p.Leu842Pro) c.2522T>C (p.Leu841Pro) c.2552T>C (p.Leu851Pro) c.2549T>C (p.Leu850Pro) | |
16 | g.56894534T>G | CA395997226 | SLC12A3 | c.2525T>G (p.Leu842Arg) c.2522T>G (p.Leu841Arg) c.2552T>G (p.Leu851Arg) c.2549T>G (p.Leu850Arg) | |
16 | g.56894535C>A | CA495612727 | SLC12A3 | c.2526C>A (p.Leu842=) c.2523C>A (p.Leu841=) c.2553C>A (p.Leu851=) c.2550C>A (p.Leu850=) | |
16 | g.56894535C>G | CA495612728 | SLC12A3 | c.2526C>G (p.Leu842=) c.2523C>G (p.Leu841=) c.2553C>G (p.Leu851=) c.2550C>G (p.Leu850=) | |
16 | g.56894535C>T | CA495612729 | SLC12A3 | c.2526C>T (p.Leu842=) c.2523C>T (p.Leu841=) c.2553C>T (p.Leu851=) c.2550C>T (p.Leu850=) | |
16 | g.56894536A>C | CA395997229 | SLC12A3 | c.2527A>C (p.Thr843Pro) c.2524A>C (p.Thr842Pro) c.2554A>C (p.Thr852Pro) c.2551A>C (p.Thr851Pro) | |
16 | g.56894536A>G | CA395997231 | SLC12A3 | c.2527A>G (p.Thr843Ala) c.2524A>G (p.Thr842Ala) c.2554A>G (p.Thr852Ala) c.2551A>G (p.Thr851Ala) | |
16 | g.56894536A>T | CA395997232 | SLC12A3 | c.2527A>T (p.Thr843Ser) c.2524A>T (p.Thr842Ser) c.2554A>T (p.Thr852Ser) c.2551A>T (p.Thr851Ser) | |
16 | g.56894537C>A | CA395997234 | SLC12A3 | c.2528C>A (p.Thr843Asn) c.2525C>A (p.Thr842Asn) c.2555C>A (p.Thr852Asn) c.2552C>A (p.Thr851Asn) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894537C= | CA2224361210 | SLC12A3 | c.2528C= (p.Thr843=) c.2525C= (p.Thr842=) c.2555C= (p.Thr852=) c.2552C= (p.Thr851=) | |
16 | g.56894537C>G | CA395997235 | SLC12A3 | c.2528C>G (p.Thr843Ser) c.2525C>G (p.Thr842Ser) c.2555C>G (p.Thr852Ser) c.2552C>G (p.Thr851Ser) | |
16 | g.56894537C>T | CA395997237 | SLC12A3 | c.2528C>T (p.Thr843Ile) c.2525C>T (p.Thr842Ile) c.2555C>T (p.Thr852Ile) c.2552C>T (p.Thr851Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.56894538C>A | CA495612730 | SLC12A3 | c.2529C>A (p.Thr843=) c.2526C>A (p.Thr842=) c.2556C>A (p.Thr852=) c.2553C>A (p.Thr851=) | |
16 | g.56894538C= | CA2224361211 | SLC12A3 | c.2529C= (p.Thr843=) c.2526C= (p.Thr842=) c.2556C= (p.Thr852=) c.2553C= (p.Thr851=) | |
16 | g.56894538C>G | CA495612731 | SLC12A3 | c.2529C>G (p.Thr843=) c.2526C>G (p.Thr842=) c.2556C>G (p.Thr852=) c.2553C>G (p.Thr851=) | dbSNP gnomAD v4 |
16 | g.56894538C>T | CA495612732 | SLC12A3 | c.2529C>T (p.Thr843=) c.2526C>T (p.Thr842=) c.2556C>T (p.Thr852=) c.2553C>T (p.Thr851=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894539C>A | CA395997239 | SLC12A3 | c.2530C>A (p.Leu844Ile) c.2527C>A (p.Leu843Ile) c.2557C>A (p.Leu853Ile) c.2554C>A (p.Leu852Ile) | |
16 | g.56894539C= | CA2224361212 | SLC12A3 | c.2530C= (p.Leu844=) c.2527C= (p.Leu843=) c.2557C= (p.Leu853=) c.2554C= (p.Leu852=) | |
16 | g.56894539C>G | CA395997241 | SLC12A3 | c.2530C>G (p.Leu844Val) c.2527C>G (p.Leu843Val) c.2557C>G (p.Leu853Val) c.2554C>G (p.Leu852Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894539C>T | CA8069960 | SLC12A3 | c.2530C>T (p.Leu844Phe) c.2527C>T (p.Leu843Phe) c.2557C>T (p.Leu853Phe) c.2554C>T (p.Leu852Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894540T>A | CA395997243 | SLC12A3 | c.2531T>A (p.Leu844His) c.2528T>A (p.Leu843His) c.2558T>A (p.Leu853His) c.2555T>A (p.Leu852His) | dbSNP |
16 | g.56894540T>C | CA395997244 | SLC12A3 | c.2531T>C (p.Leu844Pro) c.2528T>C (p.Leu843Pro) c.2558T>C (p.Leu853Pro) c.2555T>C (p.Leu852Pro) | |
16 | g.56894540T>G | CA395997245 | SLC12A3 | c.2531T>G (p.Leu844Arg) c.2528T>G (p.Leu843Arg) c.2558T>G (p.Leu853Arg) c.2555T>G (p.Leu852Arg) | |
16 | g.56894540T= | CA2224361214 | SLC12A3 | c.2531T= (p.Leu844=) c.2528T= (p.Leu843=) c.2558T= (p.Leu853=) c.2555T= (p.Leu852=) | |
16 | g.56894540_56894541delinsTC | CA2224361213 | SLC12A3 | c.2531_2532delinsTC (p.Leu844=) c.2528_2529delinsTC (p.Leu843=) c.2558_2559delinsTC (p.Leu853=) c.2555_2556delinsTC (p.Leu852=) | |
16 | g.56894541C>A | CA495612734 | SLC12A3 | c.2532C>A (p.Leu844=) c.2529C>A (p.Leu843=) c.2559C>A (p.Leu853=) c.2556C>A (p.Leu852=) | |
16 | g.56894541C>G | CA495612733 | SLC12A3 | c.2532C>G (p.Leu844=) c.2529C>G (p.Leu843=) c.2559C>G (p.Leu853=) c.2556C>G (p.Leu852=) | |
16 | g.56894541C>T | CA495612735 | SLC12A3 | c.2532C>T (p.Leu844=) c.2529C>T (p.Leu843=) c.2559C>T (p.Leu853=) c.2556C>T (p.Leu852=) | ClinVar dbSNP |
16 | g.56894542del | CA8069961 | SLC12A3 | c.2533del (p.Leu845SerfsTer21) c.2530del (p.Leu844SerfsTer21) c.2560del (p.Leu854SerfsTer21) c.2557del (p.Leu853SerfsTer21) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894542C>A | CA395997247 | SLC12A3 | c.2533C>A (p.Leu845Ile) c.2530C>A (p.Leu844Ile) c.2560C>A (p.Leu854Ile) c.2557C>A (p.Leu853Ile) | |
16 | g.56894542C>G | CA395997246 | SLC12A3 | c.2533C>G (p.Leu845Val) c.2530C>G (p.Leu844Val) c.2560C>G (p.Leu854Val) c.2557C>G (p.Leu853Val) | |
16 | g.56894542C>T | CA395997248 | SLC12A3 | c.2533C>T (p.Leu845Phe) c.2530C>T (p.Leu844Phe) c.2560C>T (p.Leu854Phe) c.2557C>T (p.Leu853Phe) | |
16 | g.56894543T>A | CA395997251 | SLC12A3 | c.2534T>A (p.Leu845His) c.2531T>A (p.Leu844His) c.2561T>A (p.Leu854His) c.2558T>A (p.Leu853His) | |
16 | g.56894543T>C | CA395997253 | SLC12A3 | c.2534T>C (p.Leu845Pro) c.2531T>C (p.Leu844Pro) c.2561T>C (p.Leu854Pro) c.2558T>C (p.Leu853Pro) | |
16 | g.56894543T>G | CA395997254 | SLC12A3 | c.2534T>G (p.Leu845Arg) c.2531T>G (p.Leu844Arg) c.2561T>G (p.Leu854Arg) c.2558T>G (p.Leu853Arg) | |
16 | g.56894544C>A | CA495612736 | SLC12A3 | c.2535C>A (p.Leu845=) c.2532C>A (p.Leu844=) c.2562C>A (p.Leu854=) c.2559C>A (p.Leu853=) | |
16 | g.56894544C>G | CA495612738 | SLC12A3 | c.2535C>G (p.Leu845=) c.2532C>G (p.Leu844=) c.2562C>G (p.Leu854=) c.2559C>G (p.Leu853=) | |
16 | g.56894544C>T | CA495612737 | SLC12A3 | c.2535C>T (p.Leu845=) c.2532C>T (p.Leu844=) c.2562C>T (p.Leu854=) c.2559C>T (p.Leu853=) | |
16 | g.56894545A= | CA2224361215 | SLC12A3 | c.2536A= (p.Ile846=) c.2533A= (p.Ile845=) c.2563A= (p.Ile855=) c.2560A= (p.Ile854=) | |
16 | g.56894545A>C | CA395997257 | SLC12A3 | c.2536A>C (p.Ile846Leu) c.2533A>C (p.Ile845Leu) c.2563A>C (p.Ile855Leu) c.2560A>C (p.Ile854Leu) | |
16 | g.56894545A>G | CA395997259 | SLC12A3 | c.2536A>G (p.Ile846Val) c.2533A>G (p.Ile845Val) c.2563A>G (p.Ile855Val) c.2560A>G (p.Ile854Val) | |
16 | g.56894545A>T | CA281514275 | SLC12A3 | c.2536A>T (p.Ile846Phe) c.2533A>T (p.Ile845Phe) c.2563A>T (p.Ile855Phe) c.2560A>T (p.Ile854Phe) | dbSNP |
16 | g.56894546T>A | CA395997263 | SLC12A3 | c.2537T>A (p.Ile846Asn) c.2534T>A (p.Ile845Asn) c.2564T>A (p.Ile855Asn) c.2561T>A (p.Ile854Asn) | |
16 | g.56894546T>C | CA395997265 | SLC12A3 | c.2537T>C (p.Ile846Thr) c.2534T>C (p.Ile845Thr) c.2564T>C (p.Ile855Thr) c.2561T>C (p.Ile854Thr) | |
16 | g.56894546T>G | CA395997267 | SLC12A3 | c.2537T>G (p.Ile846Ser) c.2534T>G (p.Ile845Ser) c.2564T>G (p.Ile855Ser) c.2561T>G (p.Ile854Ser) | |
16 | g.56894547T>A | CA495612739 | SLC12A3 | c.2538T>A (p.Ile846=) c.2535T>A (p.Ile845=) c.2565T>A (p.Ile855=) c.2562T>A (p.Ile854=) | |
16 | g.56894547T>C | CA495612740 | SLC12A3 | c.2538T>C (p.Ile846=) c.2535T>C (p.Ile845=) c.2565T>C (p.Ile855=) c.2562T>C (p.Ile854=) | |
16 | g.56894547T>G | CA395997268 | SLC12A3 | c.2538T>G (p.Ile846Met) c.2535T>G (p.Ile845Met) c.2565T>G (p.Ile855Met) c.2562T>G (p.Ile854Met) | |
16 | g.56894548C>A | CA395997270 | SLC12A3 | c.2539C>A (p.Pro847Thr) c.2536C>A (p.Pro846Thr) c.2566C>A (p.Pro856Thr) c.2563C>A (p.Pro855Thr) | |
16 | g.56894548C>G | CA395997273 | SLC12A3 | c.2539C>G (p.Pro847Ala) c.2536C>G (p.Pro846Ala) c.2566C>G (p.Pro856Ala) c.2563C>G (p.Pro855Ala) | |
16 | g.56894548C>T | CA395997276 | SLC12A3 | c.2539C>T (p.Pro847Ser) c.2536C>T (p.Pro846Ser) c.2566C>T (p.Pro856Ser) c.2563C>T (p.Pro855Ser) | |
16 | g.56894549C>A | CA395997281 | SLC12A3 | c.2540C>A (p.Pro847His) c.2537C>A (p.Pro846His) c.2567C>A (p.Pro856His) c.2564C>A (p.Pro855His) | |
16 | g.56894549C>G | CA395997284 | SLC12A3 | c.2540C>G (p.Pro847Arg) c.2537C>G (p.Pro846Arg) c.2567C>G (p.Pro856Arg) c.2564C>G (p.Pro855Arg) | |
16 | g.56894549C>T | CA395997279 | SLC12A3 | c.2540C>T (p.Pro847Leu) c.2537C>T (p.Pro846Leu) c.2567C>T (p.Pro856Leu) c.2564C>T (p.Pro855Leu) | |
16 | g.56894550C>A | CA495612741 | SLC12A3 | c.2541C>A (p.Pro847=) c.2538C>A (p.Pro846=) c.2568C>A (p.Pro856=) c.2565C>A (p.Pro855=) | dbSNP |
16 | g.56894550C= | CA2224361216 | SLC12A3 | c.2541C= (p.Pro847=) c.2538C= (p.Pro846=) c.2568C= (p.Pro856=) c.2565C= (p.Pro855=) | |
16 | g.56894550C>G | CA495612742 | SLC12A3 | c.2541C>G (p.Pro847=) c.2538C>G (p.Pro846=) c.2568C>G (p.Pro856=) c.2565C>G (p.Pro855=) | |
16 | g.56894550C>T | CA495612743 | SLC12A3 | c.2541C>T (p.Pro847=) c.2538C>T (p.Pro846=) c.2568C>T (p.Pro856=) c.2565C>T (p.Pro855=) | dbSNP gnomAD v2 |
16 | g.56894551T>A | CA395997287 | SLC12A3 | c.2542T>A (p.Tyr848Asn) c.2539T>A (p.Tyr847Asn) c.2569T>A (p.Tyr857Asn) c.2566T>A (p.Tyr856Asn) | COSMIC |
16 | g.56894551T>C | CA395997290 | SLC12A3 | c.2542T>C (p.Tyr848His) c.2539T>C (p.Tyr847His) c.2569T>C (p.Tyr857His) c.2566T>C (p.Tyr856His) | |
16 | g.56894551T>G | CA395997292 | SLC12A3 | c.2542T>G (p.Tyr848Asp) c.2539T>G (p.Tyr847Asp) c.2569T>G (p.Tyr857Asp) c.2566T>G (p.Tyr856Asp) | |
16 | g.56894552A>C | CA395997294 | SLC12A3 | c.2543A>C (p.Tyr848Ser) c.2540A>C (p.Tyr847Ser) c.2570A>C (p.Tyr857Ser) c.2567A>C (p.Tyr856Ser) | |
16 | g.56894552A>G | CA395997297 | SLC12A3 | c.2543A>G (p.Tyr848Cys) c.2540A>G (p.Tyr847Cys) c.2570A>G (p.Tyr857Cys) c.2567A>G (p.Tyr856Cys) | |
16 | g.56894552A>T | CA395997299 | SLC12A3 | c.2543A>T (p.Tyr848Phe) c.2540A>T (p.Tyr847Phe) c.2570A>T (p.Tyr857Phe) c.2567A>T (p.Tyr856Phe) | |
16 | g.56894553T>A | CA395997312 | SLC12A3 | c.2544T>A (p.Tyr848Ter) c.2541T>A (p.Tyr847Ter) c.2571T>A (p.Tyr857Ter) c.2568T>A (p.Tyr856Ter) | |
16 | g.56894553T>C | CA495612744 | SLC12A3 | c.2544T>C (p.Tyr848=) c.2541T>C (p.Tyr847=) c.2571T>C (p.Tyr857=) c.2568T>C (p.Tyr856=) | dbSNP |
16 | g.56894553T>G | CA395997314 | SLC12A3 | c.2544T>G (p.Tyr848Ter) c.2541T>G (p.Tyr847Ter) c.2571T>G (p.Tyr857Ter) c.2568T>G (p.Tyr856Ter) | ClinVar dbSNP |
16 | g.56894553T= | CA2224361217 | SLC12A3 | c.2544T= (p.Tyr848=) c.2541T= (p.Tyr847=) c.2571T= (p.Tyr857=) c.2568T= (p.Tyr856=) | |
16 | g.56894554C>A | CA395997316 | SLC12A3 | c.2545C>A (p.Leu849Ile) c.2542C>A (p.Leu848Ile) c.2572C>A (p.Leu858Ile) c.2569C>A (p.Leu857Ile) | |
16 | g.56894554C>G | CA395997318 | SLC12A3 | c.2545C>G (p.Leu849Val) c.2542C>G (p.Leu848Val) c.2572C>G (p.Leu858Val) c.2569C>G (p.Leu857Val) | |
16 | g.56894554C>T | CA395997319 | SLC12A3 | c.2545C>T (p.Leu849Phe) c.2542C>T (p.Leu848Phe) c.2572C>T (p.Leu858Phe) c.2569C>T (p.Leu857Phe) | ClinVar gnomAD v4 |
16 | g.56894555T>A | CA8069962 | SLC12A3 | c.2546T>A (p.Leu849His) c.2543T>A (p.Leu848His) c.2573T>A (p.Leu858His) c.2570T>A (p.Leu857His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894555T>C | CA395997324 | SLC12A3 | c.2546T>C (p.Leu849Pro) c.2543T>C (p.Leu848Pro) c.2573T>C (p.Leu858Pro) c.2570T>C (p.Leu857Pro) | |
16 | g.56894555T>G | CA395997325 | SLC12A3 | c.2546T>G (p.Leu849Arg) c.2543T>G (p.Leu848Arg) c.2573T>G (p.Leu858Arg) c.2570T>G (p.Leu857Arg) | |
16 | g.56894555T= | CA2224361218 | SLC12A3 | c.2546T= (p.Leu849=) c.2543T= (p.Leu848=) c.2573T= (p.Leu858=) c.2570T= (p.Leu857=) | |
16 | g.56894556C>A | CA495612745 | SLC12A3 | c.2547C>A (p.Leu849=) c.2544C>A (p.Leu848=) c.2574C>A (p.Leu858=) c.2571C>A (p.Leu857=) | |
16 | g.56894556C= | CA2224361219 | SLC12A3 | c.2547C= (p.Leu849=) c.2544C= (p.Leu848=) c.2574C= (p.Leu858=) c.2571C= (p.Leu857=) | |
16 | g.56894556C>G | CA495612746 | SLC12A3 | c.2547C>G (p.Leu849=) c.2544C>G (p.Leu848=) c.2574C>G (p.Leu858=) c.2571C>G (p.Leu857=) | |
16 | g.56894556C>T | CA8069963 | SLC12A3 | c.2547C>T (p.Leu849=) c.2544C>T (p.Leu848=) c.2574C>T (p.Leu858=) c.2571C>T (p.Leu857=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.56894557C>A | CA8069964 | SLC12A3 | c.2548C>A (p.Leu850Ile) c.2545C>A (p.Leu849Ile) c.2575C>A (p.Leu859Ile) c.2572C>A (p.Leu858Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894557C= | CA2224361220 | SLC12A3 | c.2548C= (p.Leu850=) c.2545C= (p.Leu849=) c.2575C= (p.Leu859=) c.2572C= (p.Leu858=) | |
16 | g.56894557C>G | CA395997330 | SLC12A3 | c.2548C>G (p.Leu850Val) c.2545C>G (p.Leu849Val) c.2575C>G (p.Leu859Val) c.2572C>G (p.Leu858Val) | |
16 | g.56894557C>T | CA395997333 | SLC12A3 | c.2548C>T (p.Leu850Phe) c.2545C>T (p.Leu849Phe) c.2575C>T (p.Leu859Phe) c.2572C>T (p.Leu858Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894558T>A | CA395997337 | SLC12A3 | c.2549T>A (p.Leu850His) c.2546T>A (p.Leu849His) c.2576T>A (p.Leu859His) c.2573T>A (p.Leu858His) | |
16 | g.56894558T>C | CA250046 | SLC12A3 | c.2549T>C (p.Leu850Pro) c.2546T>C (p.Leu849Pro) c.2576T>C (p.Leu859Pro) c.2573T>C (p.Leu858Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894558T>G | CA395997340 | SLC12A3 | c.2549T>G (p.Leu850Arg) c.2546T>G (p.Leu849Arg) c.2576T>G (p.Leu859Arg) c.2573T>G (p.Leu858Arg) | |
16 | g.56894558T= | CA2224361221 | SLC12A3 | c.2549T= (p.Leu850=) c.2546T= (p.Leu849=) c.2576T= (p.Leu859=) c.2573T= (p.Leu858=) | |
16 | g.56894559T>A | CA495612747 | SLC12A3 | c.2550T>A (p.Leu850=) c.2547T>A (p.Leu849=) c.2577T>A (p.Leu859=) c.2574T>A (p.Leu858=) | |
16 | g.56894559T>C | CA8069965 | SLC12A3 | c.2550T>C (p.Leu850=) c.2547T>C (p.Leu849=) c.2577T>C (p.Leu859=) c.2574T>C (p.Leu858=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894559T>G | CA495612748 | SLC12A3 | c.2550T>G (p.Leu850=) c.2547T>G (p.Leu849=) c.2577T>G (p.Leu859=) c.2574T>G (p.Leu858=) | |
16 | g.56894559T= | CA2224361222 | SLC12A3 | c.2550T= (p.Leu850=) c.2547T= (p.Leu849=) c.2577T= (p.Leu859=) c.2574T= (p.Leu858=) | |
16 | g.56894560G>A | CA395997351 | SLC12A3 | c.2551G>A (p.Gly851Ser) c.2548G>A (p.Gly850Ser) c.2578G>A (p.Gly860Ser) c.2575G>A (p.Gly859Ser) | |
16 | g.56894560G>C | CA395997349 | SLC12A3 | c.2551G>C (p.Gly851Arg) c.2548G>C (p.Gly850Arg) c.2578G>C (p.Gly860Arg) c.2575G>C (p.Gly859Arg) | |
16 | g.56894560G>T | CA395997346 | SLC12A3 | c.2551G>T (p.Gly851Cys) c.2548G>T (p.Gly850Cys) c.2578G>T (p.Gly860Cys) c.2575G>T (p.Gly859Cys) | |
16 | g.56894561G>A | CA395997352 | SLC12A3 | c.2552G>A (p.Gly851Asp) c.2549G>A (p.Gly850Asp) c.2579G>A (p.Gly860Asp) c.2576G>A (p.Gly859Asp) | |
16 | g.56894561G>C | CA395997354 | SLC12A3 | c.2552G>C (p.Gly851Ala) c.2549G>C (p.Gly850Ala) c.2579G>C (p.Gly860Ala) c.2576G>C (p.Gly859Ala) | |
16 | g.56894561G>T | CA395997355 | SLC12A3 | c.2552G>T (p.Gly851Val) c.2549G>T (p.Gly850Val) c.2579G>T (p.Gly860Val) c.2576G>T (p.Gly859Val) | |
16 | g.56894562C>A | CA495612749 | SLC12A3 | c.2553C>A (p.Gly851=) c.2550C>A (p.Gly850=) c.2580C>A (p.Gly860=) c.2577C>A (p.Gly859=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894562C= | CA2224361223 | SLC12A3 | c.2553C= (p.Gly851=) c.2550C= (p.Gly850=) c.2580C= (p.Gly860=) c.2577C= (p.Gly859=) | |
16 | g.56894562C>G | CA495612750 | SLC12A3 | c.2553C>G (p.Gly851=) c.2550C>G (p.Gly850=) c.2580C>G (p.Gly860=) c.2577C>G (p.Gly859=) | |
16 | g.56894562C>T | CA495612751 | SLC12A3 | c.2553C>T (p.Gly851=) c.2550C>T (p.Gly850=) c.2580C>T (p.Gly860=) c.2577C>T (p.Gly859=) | |
16 | g.56894563C>A | CA395997358 | SLC12A3 | c.2554C>A (p.Arg852Ser) c.2551C>A (p.Arg851Ser) c.2581C>A (p.Arg861Ser) c.2578C>A (p.Arg860Ser) | dbSNP |
16 | g.56894563C= | CA2224361224 | SLC12A3 | c.2554C= (p.Arg852=) c.2551C= (p.Arg851=) c.2581C= (p.Arg861=) c.2578C= (p.Arg860=) | |
16 | g.56894563C>G | CA395997362 | SLC12A3 | c.2554C>G (p.Arg852Gly) c.2551C>G (p.Arg851Gly) c.2581C>G (p.Arg861Gly) c.2578C>G (p.Arg860Gly) | |
16 | g.56894563C>T | CA8069966 | SLC12A3 | c.2554C>T (p.Arg852Cys) c.2551C>T (p.Arg851Cys) c.2581C>T (p.Arg861Cys) c.2578C>T (p.Arg860Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894564G>A | CA8069967 | SLC12A3 | c.2555G>A (p.Arg852His) c.2552G>A (p.Arg851His) c.2582G>A (p.Arg861His) c.2579G>A (p.Arg860His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56894564G>C | CA395997375 | SLC12A3 | c.2555G>C (p.Arg852Pro) c.2552G>C (p.Arg851Pro) c.2582G>C (p.Arg861Pro) c.2579G>C (p.Arg860Pro) | |
16 | g.56894564G= | CA2224361225 | SLC12A3 | c.2555G= (p.Arg852=) c.2552G= (p.Arg851=) c.2582G= (p.Arg861=) c.2579G= (p.Arg860=) | |
16 | g.56894564G>T | CA395997370 | SLC12A3 | c.2555G>T (p.Arg852Leu) c.2552G>T (p.Arg851Leu) c.2582G>T (p.Arg861Leu) c.2579G>T (p.Arg860Leu) | dbSNP gnomAD v4 |
16 | g.56894565C>A | CA495612752 | SLC12A3 | c.2556C>A (p.Arg852=) c.2553C>A (p.Arg851=) c.2583C>A (p.Arg861=) c.2580C>A (p.Arg860=) | gnomAD v4 |
16 | g.56894565C>G | CA495612753 | SLC12A3 | c.2556C>G (p.Arg852=) c.2553C>G (p.Arg851=) c.2583C>G (p.Arg861=) c.2580C>G (p.Arg860=) | |
16 | g.56894565C>T | CA495612754 | SLC12A3 | c.2556C>T (p.Arg852=) c.2553C>T (p.Arg851=) c.2583C>T (p.Arg861=) c.2580C>T (p.Arg860=) | |
16 | g.56894566A= | CA2224361226 | SLC12A3 | c.2557A= (p.Lys853=) c.2554A= (p.Lys852=) c.2584A= (p.Lys862=) c.2581A= (p.Lys861=) | |
16 | g.56894566A>C | CA395997377 | SLC12A3 | c.2557A>C (p.Lys853Gln) c.2554A>C (p.Lys852Gln) c.2584A>C (p.Lys862Gln) c.2581A>C (p.Lys861Gln) | |
16 | g.56894566A>G | CA395997379 | SLC12A3 | c.2557A>G (p.Lys853Glu) c.2554A>G (p.Lys852Glu) c.2584A>G (p.Lys862Glu) c.2581A>G (p.Lys861Glu) | dbSNP gnomAD v4 |
16 | g.56894566A>T | CA395997381 | SLC12A3 | c.2557A>T (p.Lys853Ter) c.2554A>T (p.Lys852Ter) c.2584A>T (p.Lys862Ter) c.2581A>T (p.Lys861Ter) | |
16 | g.56894567A>C | CA395997383 | SLC12A3 | c.2558A>C (p.Lys853Thr) c.2555A>C (p.Lys852Thr) c.2585A>C (p.Lys862Thr) c.2582A>C (p.Lys861Thr) | |
16 | g.56894567A>G | CA395997386 | SLC12A3 | c.2558A>G (p.Lys853Arg) c.2555A>G (p.Lys852Arg) c.2585A>G (p.Lys862Arg) c.2582A>G (p.Lys861Arg) | |
16 | g.56894567A>T | CA395997388 | SLC12A3 | c.2558A>T (p.Lys853Met) c.2555A>T (p.Lys852Met) c.2585A>T (p.Lys862Met) c.2582A>T (p.Lys861Met) | |
16 | g.56894568G>A | CA8069968 | SLC12A3 | c.2559G>A (p.Lys853=) c.2556G>A (p.Lys852=) c.2586G>A (p.Lys862=) c.2583G>A (p.Lys861=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894568G>C | CA395997393 | SLC12A3 | c.2559G>C (p.Lys853Asn) c.2556G>C (p.Lys852Asn) c.2586G>C (p.Lys862Asn) c.2583G>C (p.Lys861Asn) | |
16 | g.56894568G= | CA2224361227 | SLC12A3 | c.2559G= (p.Lys853=) c.2556G= (p.Lys852=) c.2586G= (p.Lys862=) c.2583G= (p.Lys861=) | |
16 | g.56894568G>T | CA395997396 | SLC12A3 | c.2559G>T (p.Lys853Asn) c.2556G>T (p.Lys852Asn) c.2586G>T (p.Lys862Asn) c.2583G>T (p.Lys861Asn) | |
16 | g.56894569A= | CA2224361228 | SLC12A3 | c.2560A= (p.Arg854=) c.2557A= (p.Arg853=) c.2587A= (p.Arg863=) c.2584A= (p.Arg862=) | |
16 | g.56894569A>C | CA495612755 | SLC12A3 | c.2560A>C (p.Arg854=) c.2557A>C (p.Arg853=) c.2587A>C (p.Arg863=) c.2584A>C (p.Arg862=) | |
16 | g.56894569A>G | CA395997399 | SLC12A3 | c.2560A>G (p.Arg854Gly) c.2557A>G (p.Arg853Gly) c.2587A>G (p.Arg863Gly) c.2584A>G (p.Arg862Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894569A>T | CA395997402 | SLC12A3 | c.2560A>T (p.Arg854Trp) c.2557A>T (p.Arg853Trp) c.2587A>T (p.Arg863Trp) c.2584A>T (p.Arg862Trp) | |
16 | g.56894570G>A | CA281514318 | SLC12A3 | c.2561G>A (p.Arg854Lys) c.2558G>A (p.Arg853Lys) c.2588G>A (p.Arg863Lys) c.2585G>A (p.Arg862Lys) | dbSNP |
16 | g.56894570G>C | CA395997408 | SLC12A3 | c.2561G>C (p.Arg854Thr) c.2558G>C (p.Arg853Thr) c.2588G>C (p.Arg863Thr) c.2585G>C (p.Arg862Thr) | |
16 | g.56894570G= | CA2224361229 | SLC12A3 | c.2561G= (p.Arg854=) c.2558G= (p.Arg853=) c.2588G= (p.Arg863=) c.2585G= (p.Arg862=) | |
16 | g.56894570G>T | CA395997406 | SLC12A3 | c.2561G>T (p.Arg854Met) c.2558G>T (p.Arg853Met) c.2588G>T (p.Arg863Met) c.2585G>T (p.Arg862Met) | |
16 | g.56894571G>A | CA495612756 | SLC12A3 | c.2562G>A (p.Arg854=) c.2559G>A (p.Arg853=) c.2589G>A (p.Arg863=) c.2586G>A (p.Arg862=) | ClinVar dbSNP |
16 | g.56894571G>C | CA395997409 | SLC12A3 | c.2562G>C (p.Arg854Ser) c.2559G>C (p.Arg853Ser) c.2589G>C (p.Arg863Ser) c.2586G>C (p.Arg862Ser) | |
16 | g.56894571G= | CA2224361230 | SLC12A3 | c.2562G= (p.Arg854=) c.2559G= (p.Arg853=) c.2589G= (p.Arg863=) c.2586G= (p.Arg862=) | |
16 | g.56894571G>T | CA395997410 | SLC12A3 | c.2562G>T (p.Arg854Ser) c.2559G>T (p.Arg853Ser) c.2589G>T (p.Arg863Ser) c.2586G>T (p.Arg862Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894572A= | CA2224361231 | SLC12A3 | c.2563A= (p.Arg855=) c.2560A= (p.Arg854=) c.2590A= (p.Arg864=) c.2587A= (p.Arg863=) | |
16 | g.56894572A>C | CA495612757 | SLC12A3 | c.2563A>C (p.Arg855=) c.2560A>C (p.Arg854=) c.2590A>C (p.Arg864=) c.2587A>C (p.Arg863=) | ClinVar dbSNP |
16 | g.56894572A>G | CA281514326 | SLC12A3 | c.2563A>G (p.Arg855Gly) c.2560A>G (p.Arg854Gly) c.2590A>G (p.Arg864Gly) c.2587A>G (p.Arg863Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894572A>T | CA395997411 | SLC12A3 | c.2563A>T (p.Arg855Trp) c.2560A>T (p.Arg854Trp) c.2590A>T (p.Arg864Trp) c.2587A>T (p.Arg863Trp) | |
16 | g.56894573G>A | CA8069969 | SLC12A3 | c.2564G>A (p.Arg855Lys) c.2561G>A (p.Arg854Lys) c.2591G>A (p.Arg864Lys) c.2588G>A (p.Arg863Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894573G>C | CA395997413 | SLC12A3 | c.2564G>C (p.Arg855Thr) c.2561G>C (p.Arg854Thr) c.2591G>C (p.Arg864Thr) c.2588G>C (p.Arg863Thr) | |
16 | g.56894573G= | CA2224361232 | SLC12A3 | c.2564G= (p.Arg855=) c.2561G= (p.Arg854=) c.2591G= (p.Arg864=) c.2588G= (p.Arg863=) | |
16 | g.56894573G>T | CA395997414 | SLC12A3 | c.2564G>T (p.Arg855Met) c.2561G>T (p.Arg854Met) c.2591G>T (p.Arg864Met) c.2588G>T (p.Arg863Met) | |
16 | g.56894574G>A | CA495612758 | SLC12A3 | c.2565G>A (p.Arg855=) c.2562G>A (p.Arg854=) c.2592G>A (p.Arg864=) c.2589G>A (p.Arg863=) | gnomAD v4 |
16 | g.56894574G>C | CA395997416 | SLC12A3 | c.2565G>C (p.Arg855Ser) c.2562G>C (p.Arg854Ser) c.2592G>C (p.Arg864Ser) c.2589G>C (p.Arg863Ser) | |
16 | g.56894574G>T | CA395997417 | SLC12A3 | c.2565G>T (p.Arg855Ser) c.2562G>T (p.Arg854Ser) c.2592G>T (p.Arg864Ser) c.2589G>T (p.Arg863Ser) | |
16 | g.56894575T>A | CA395997418 | SLC12A3 | c.2566T>A (p.Trp856Arg) c.2563T>A (p.Trp855Arg) c.2593T>A (p.Trp865Arg) c.2590T>A (p.Trp864Arg) | |
16 | g.56894575T>C | CA395997419 | SLC12A3 | c.2566T>C (p.Trp856Arg) c.2563T>C (p.Trp855Arg) c.2593T>C (p.Trp865Arg) c.2590T>C (p.Trp864Arg) | |
16 | g.56894575T>G | CA395997420 | SLC12A3 | c.2566T>G (p.Trp856Gly) c.2563T>G (p.Trp855Gly) c.2593T>G (p.Trp865Gly) c.2590T>G (p.Trp864Gly) | |
16 | g.56894576G>A | CA395997421 | SLC12A3 | c.2567G>A (p.Trp856Ter) c.2564G>A (p.Trp855Ter) c.2594G>A (p.Trp865Ter) c.2591G>A (p.Trp864Ter) | |
16 | g.56894576G>C | CA395997423 | SLC12A3 | c.2567G>C (p.Trp856Ser) c.2564G>C (p.Trp855Ser) c.2594G>C (p.Trp865Ser) c.2591G>C (p.Trp864Ser) | |
16 | g.56894576G>T | CA395997425 | SLC12A3 | c.2567G>T (p.Trp856Leu) c.2564G>T (p.Trp855Leu) c.2594G>T (p.Trp865Leu) c.2591G>T (p.Trp864Leu) | |
16 | g.56894577G>A | CA395997432 | SLC12A3 | c.2568G>A (p.Trp856Ter) c.2565G>A (p.Trp855Ter) c.2595G>A (p.Trp865Ter) c.2592G>A (p.Trp864Ter) | |
16 | g.56894577G>C | CA395997427 | SLC12A3 | c.2568G>C (p.Trp856Cys) c.2565G>C (p.Trp855Cys) c.2595G>C (p.Trp865Cys) c.2592G>C (p.Trp864Cys) | |
16 | g.56894577G>T | CA395997429 | SLC12A3 | c.2568G>T (p.Trp856Cys) c.2565G>T (p.Trp855Cys) c.2595G>T (p.Trp865Cys) c.2592G>T (p.Trp864Cys) | |
16 | g.56894578A>C | CA395997434 | SLC12A3 | c.2569A>C (p.Ser857Arg) c.2566A>C (p.Ser856Arg) c.2596A>C (p.Ser866Arg) c.2593A>C (p.Ser865Arg) | |
16 | g.56894578A>G | CA395997438 | SLC12A3 | c.2569A>G (p.Ser857Gly) c.2566A>G (p.Ser856Gly) c.2596A>G (p.Ser866Gly) c.2593A>G (p.Ser865Gly) | |
16 | g.56894578A>T | CA395997441 | SLC12A3 | c.2569A>T (p.Ser857Cys) c.2566A>T (p.Ser856Cys) c.2596A>T (p.Ser866Cys) c.2593A>T (p.Ser865Cys) | |
16 | g.56894579G>A | CA395997442 | SLC12A3 | c.2570G>A (p.Ser857Asn) c.2567G>A (p.Ser856Asn) c.2597G>A (p.Ser866Asn) c.2594G>A (p.Ser865Asn) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894579G>C | CA395997445 | SLC12A3 | c.2570G>C (p.Ser857Thr) c.2567G>C (p.Ser856Thr) c.2597G>C (p.Ser866Thr) c.2594G>C (p.Ser865Thr) | |
16 | g.56894579G= | CA2224361233 | SLC12A3 | c.2570G= (p.Ser857=) c.2567G= (p.Ser856=) c.2597G= (p.Ser866=) c.2594G= (p.Ser865=) | |
16 | g.56894579G>T | CA395997450 | SLC12A3 | c.2570G>T (p.Ser857Ile) c.2567G>T (p.Ser856Ile) c.2597G>T (p.Ser866Ile) c.2594G>T (p.Ser865Ile) | |
16 | g.56894580C>A | CA395997451 | SLC12A3 | c.2571C>A (p.Ser857Arg) c.2568C>A (p.Ser856Arg) c.2598C>A (p.Ser866Arg) c.2595C>A (p.Ser865Arg) | |
16 | g.56894580C>G | CA395997454 | SLC12A3 | c.2571C>G (p.Ser857Arg) c.2568C>G (p.Ser856Arg) c.2598C>G (p.Ser866Arg) c.2595C>G (p.Ser865Arg) | |
16 | g.56894580C>T | CA495612759 | SLC12A3 | c.2571C>T (p.Ser857=) c.2568C>T (p.Ser856=) c.2598C>T (p.Ser866=) c.2595C>T (p.Ser865=) | |
16 | g.56894581A>C | CA395997456 | SLC12A3 | c.2572A>C (p.Lys858Gln) c.2569A>C (p.Lys857Gln) c.2599A>C (p.Lys867Gln) c.2596A>C (p.Lys866Gln) | |
16 | g.56894581A>G | CA395997459 | SLC12A3 | c.2572A>G (p.Lys858Glu) c.2569A>G (p.Lys857Glu) c.2599A>G (p.Lys867Glu) c.2596A>G (p.Lys866Glu) | |
16 | g.56894581A>T | CA395997461 | SLC12A3 | c.2572A>T (p.Lys858Ter) c.2569A>T (p.Lys857Ter) c.2599A>T (p.Lys867Ter) c.2596A>T (p.Lys866Ter) | |
16 | g.56894582A>C | CA395997474 | SLC12A3 | c.2573A>C (p.Lys858Thr) c.2570A>C (p.Lys857Thr) c.2600A>C (p.Lys867Thr) c.2597A>C (p.Lys866Thr) | |
16 | g.56894582A>G | CA395997470 | SLC12A3 | c.2573A>G (p.Lys858Arg) c.2570A>G (p.Lys857Arg) c.2600A>G (p.Lys867Arg) c.2597A>G (p.Lys866Arg) | |
16 | g.56894582A>T | CA395997462 | SLC12A3 | c.2573A>T (p.Lys858Ile) c.2570A>T (p.Lys857Ile) c.2600A>T (p.Lys867Ile) c.2597A>T (p.Lys866Ile) | |
16 | g.56894583A>C | CA395997477 | SLC12A3 | c.2574A>C (p.Lys858Asn) c.2571A>C (p.Lys857Asn) c.2601A>C (p.Lys867Asn) c.2598A>C (p.Lys866Asn) | |
16 | g.56894583A>G | CA495612760 | SLC12A3 | c.2574A>G (p.Lys858=) c.2571A>G (p.Lys857=) c.2601A>G (p.Lys867=) c.2598A>G (p.Lys866=) | |
16 | g.56894583A>T | CA395997479 | SLC12A3 | c.2574A>T (p.Lys858Asn) c.2571A>T (p.Lys857Asn) c.2601A>T (p.Lys867Asn) c.2598A>T (p.Lys866Asn) | |
16 | g.56894584T>A | CA395997486 | SLC12A3 | c.2575T>A (p.Cys859Ser) c.2572T>A (p.Cys858Ser) c.2602T>A (p.Cys868Ser) c.2599T>A (p.Cys867Ser) | |
16 | g.56894584T>C | CA395997488 | SLC12A3 | c.2575T>C (p.Cys859Arg) c.2572T>C (p.Cys858Arg) c.2602T>C (p.Cys868Arg) c.2599T>C (p.Cys867Arg) | gnomAD v4 |
16 | g.56894584T>G | CA395997489 | SLC12A3 | c.2575T>G (p.Cys859Gly) c.2572T>G (p.Cys858Gly) c.2602T>G (p.Cys868Gly) c.2599T>G (p.Cys867Gly) | |
16 | g.56894584_56894585delinsTG | CA2224361234 | SLC12A3 | c.2575_2576delinsTG (p.Cys859=) c.2572_2573delinsTG (p.Cys858=) c.2602_2603delinsTG (p.Cys868=) c.2599_2600delinsTG (p.Cys867=) | |
16 | g.56894585del | CA658798606 | SLC12A3 | c.2576del (p.Cys859SerfsTer7) c.2573del (p.Cys858SerfsTer7) c.2603del (p.Cys868SerfsTer7) c.2600del (p.Cys867SerfsTer7) | ClinVar dbSNP |
16 | g.56894585G>A | CA395997491 | SLC12A3 | c.2576G>A (p.Cys859Tyr) c.2573G>A (p.Cys858Tyr) c.2603G>A (p.Cys868Tyr) c.2600G>A (p.Cys867Tyr) | |
16 | g.56894585G>C | CA395997493 | SLC12A3 | c.2576G>C (p.Cys859Ser) c.2573G>C (p.Cys858Ser) c.2603G>C (p.Cys868Ser) c.2600G>C (p.Cys867Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894585G= | CA2224361235 | SLC12A3 | c.2576G= (p.Cys859=) c.2573G= (p.Cys858=) c.2603G= (p.Cys868=) c.2600G= (p.Cys867=) | |
16 | g.56894585G>T | CA395997495 | SLC12A3 | c.2576G>T (p.Cys859Phe) c.2573G>T (p.Cys858Phe) c.2603G>T (p.Cys868Phe) c.2600G>T (p.Cys867Phe) | |
16 | g.56894586C>A | CA395997497 | SLC12A3 | c.2577C>A (p.Cys859Ter) c.2574C>A (p.Cys858Ter) c.2604C>A (p.Cys868Ter) c.2601C>A (p.Cys867Ter) | ClinVar gnomAD v4 |
16 | g.56894586C>G | CA395997499 | SLC12A3 | c.2577C>G (p.Cys859Trp) c.2574C>G (p.Cys858Trp) c.2604C>G (p.Cys868Trp) c.2601C>G (p.Cys867Trp) | |
16 | g.56894586C>T | CA495612761 | SLC12A3 | c.2577C>T (p.Cys859=) c.2574C>T (p.Cys858=) c.2604C>T (p.Cys868=) c.2601C>T (p.Cys867=) | |
16 | g.56894587A= | CA2224361236 | SLC12A3 | c.2578A= (p.Lys860=) c.2575A= (p.Lys859=) c.2605A= (p.Lys869=) c.2602A= (p.Lys868=) | |
16 | g.56894587A>C | CA395997500 | SLC12A3 | c.2578A>C (p.Lys860Gln) c.2575A>C (p.Lys859Gln) c.2605A>C (p.Lys869Gln) c.2602A>C (p.Lys868Gln) | |
16 | g.56894587A>G | CA8069970 | SLC12A3 | c.2578A>G (p.Lys860Glu) c.2575A>G (p.Lys859Glu) c.2605A>G (p.Lys869Glu) c.2602A>G (p.Lys868Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894587A>T | CA395997504 | SLC12A3 | c.2578A>T (p.Lys860Ter) c.2575A>T (p.Lys859Ter) c.2605A>T (p.Lys869Ter) c.2602A>T (p.Lys868Ter) | |
16 | g.56894588A>C | CA395997507 | SLC12A3 | c.2579A>C (p.Lys860Thr) c.2576A>C (p.Lys859Thr) c.2606A>C (p.Lys869Thr) c.2603A>C (p.Lys868Thr) | |
16 | g.56894588A>G | CA395997505 | SLC12A3 | c.2579A>G (p.Lys860Arg) c.2576A>G (p.Lys859Arg) c.2606A>G (p.Lys869Arg) c.2603A>G (p.Lys868Arg) | |
16 | g.56894588A>T | CA395997506 | SLC12A3 | c.2579A>T (p.Lys860Met) c.2576A>T (p.Lys859Met) c.2606A>T (p.Lys869Met) c.2603A>T (p.Lys868Met) | |
16 | g.56894589G>A | CA495612762 | SLC12A3 | c.2580G>A (p.Lys860=) c.2577G>A (p.Lys859=) c.2607G>A (p.Lys869=) c.2604G>A (p.Lys868=) | COSMIC |
16 | g.56894589G>C | CA395997508 | SLC12A3 | c.2580G>C (p.Lys860Asn) c.2577G>C (p.Lys859Asn) c.2607G>C (p.Lys869Asn) c.2604G>C (p.Lys868Asn) | |
16 | g.56894589G>T | CA395997509 | SLC12A3 | c.2580G>T (p.Lys860Asn) c.2577G>T (p.Lys859Asn) c.2607G>T (p.Lys869Asn) c.2604G>T (p.Lys868Asn) | COSMIC |
16 | g.56894590A>C | CA395997511 | SLC12A3 | c.2581A>C (p.Ile861Leu) c.2578A>C (p.Ile860Leu) c.2608A>C (p.Ile870Leu) c.2605A>C (p.Ile869Leu) | |
16 | g.56894590A>G | CA395997514 | SLC12A3 | c.2581A>G (p.Ile861Val) c.2578A>G (p.Ile860Val) c.2608A>G (p.Ile870Val) c.2605A>G (p.Ile869Val) | |
16 | g.56894590A>T | CA395997517 | SLC12A3 | c.2581A>T (p.Ile861Phe) c.2578A>T (p.Ile860Phe) c.2608A>T (p.Ile870Phe) c.2605A>T (p.Ile869Phe) | |
16 | g.56894591T>A | CA395997519 | SLC12A3 | c.2582T>A (p.Ile861Asn) c.2579T>A (p.Ile860Asn) c.2609T>A (p.Ile870Asn) c.2606T>A (p.Ile869Asn) | |
16 | g.56894591T>C | CA281514342 | SLC12A3 | c.2582T>C (p.Ile861Thr) c.2579T>C (p.Ile860Thr) c.2609T>C (p.Ile870Thr) c.2606T>C (p.Ile869Thr) | dbSNP gnomAD v2 |
16 | g.56894591T>G | CA395997522 | SLC12A3 | c.2582T>G (p.Ile861Ser) c.2579T>G (p.Ile860Ser) c.2609T>G (p.Ile870Ser) c.2606T>G (p.Ile869Ser) | |
16 | g.56894591T= | CA2224361237 | SLC12A3 | c.2582T= (p.Ile861=) c.2579T= (p.Ile860=) c.2609T= (p.Ile870=) c.2606T= (p.Ile869=) | |
16 | g.56894592C>A | CA495612764 | SLC12A3 | c.2583C>A (p.Ile861=) c.2580C>A (p.Ile860=) c.2610C>A (p.Ile870=) c.2607C>A (p.Ile869=) | |
16 | g.56894592C= | CA2224361238 | SLC12A3 | c.2583C= (p.Ile861=) c.2580C= (p.Ile860=) c.2610C= (p.Ile870=) c.2607C= (p.Ile869=) | |
16 | g.56894592C>G | CA395997524 | SLC12A3 | c.2583C>G (p.Ile861Met) c.2580C>G (p.Ile860Met) c.2610C>G (p.Ile870Met) c.2607C>G (p.Ile869Met) | |
16 | g.56894592C>T | CA495612763 | SLC12A3 | c.2583C>T (p.Ile861=) c.2580C>T (p.Ile860=) c.2610C>T (p.Ile870=) c.2607C>T (p.Ile869=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894593C>A | CA395997528 | SLC12A3 | c.2584C>A (p.Arg862Ser) c.2581C>A (p.Arg861Ser) c.2611C>A (p.Arg871Ser) c.2608C>A (p.Arg870Ser) | |
16 | g.56894593C= | CA2224361239 | SLC12A3 | c.2584C= (p.Arg862=) c.2581C= (p.Arg861=) c.2611C= (p.Arg871=) c.2608C= (p.Arg870=) | |
16 | g.56894593C>G | CA395997533 | SLC12A3 | c.2584C>G (p.Arg862Gly) c.2581C>G (p.Arg861Gly) c.2611C>G (p.Arg871Gly) c.2608C>G (p.Arg870Gly) | |
16 | g.56894593C>T | CA8069971 | SLC12A3 | c.2584C>T (p.Arg862Cys) c.2581C>T (p.Arg861Cys) c.2611C>T (p.Arg871Cys) c.2608C>T (p.Arg870Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.56894594G>A | CA032037 | SLC12A3 | c.2585G>A (p.Arg862His) c.2582G>A (p.Arg861His) c.2612G>A (p.Arg871His) c.2609G>A (p.Arg870His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894594G>C | CA395997540 | SLC12A3 | c.2585G>C (p.Arg862Pro) c.2582G>C (p.Arg861Pro) c.2612G>C (p.Arg871Pro) c.2609G>C (p.Arg870Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56894594G= | CA2224361240 | SLC12A3 | c.2585G= (p.Arg862=) c.2582G= (p.Arg861=) c.2612G= (p.Arg871=) c.2609G= (p.Arg870=) | |
16 | g.56894594G>T | CA395997539 | SLC12A3 | c.2585G>T (p.Arg862Leu) c.2582G>T (p.Arg861Leu) c.2612G>T (p.Arg871Leu) c.2609G>T (p.Arg870Leu) | dbSNP |
16 | g.56894598_56894599dup | CA2807154324 | SLC12A3 | c.2589_2590dup (p.Phe864CysfsTer3) c.2586_2587dup (p.Phe863CysfsTer3) c.2616_2617dup (p.Phe873CysfsTer3) c.2613_2614dup (p.Phe872CysfsTer3) | |
16 | g.56894595T>A | CA495612765 | SLC12A3 | c.2586T>A (p.Arg862=) c.2583T>A (p.Arg861=) c.2613T>A (p.Arg871=) c.2610T>A (p.Arg870=) | gnomAD v4 |
16 | g.56894595T>C | CA495612766 | SLC12A3 | c.2586T>C (p.Arg862=) c.2583T>C (p.Arg861=) c.2613T>C (p.Arg871=) c.2610T>C (p.Arg870=) | |
16 | g.56894595T>G | CA495612767 | SLC12A3 | c.2586T>G (p.Arg862=) c.2583T>G (p.Arg861=) c.2613T>G (p.Arg871=) c.2610T>G (p.Arg870=) | |
16 | g.56894596G>A | CA8069972 | SLC12A3 | c.2587G>A (p.Val863Met) c.2584G>A (p.Val862Met) c.2614G>A (p.Val872Met) c.2611G>A (p.Val871Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894596G>C | CA395997542 | SLC12A3 | c.2587G>C (p.Val863Leu) c.2584G>C (p.Val862Leu) c.2614G>C (p.Val872Leu) c.2611G>C (p.Val871Leu) | |
16 | g.56894596G= | CA2224361241 | SLC12A3 | c.2587G= (p.Val863=) c.2584G= (p.Val862=) c.2614G= (p.Val872=) c.2611G= (p.Val871=) | |
16 | g.56894596G>T | CA395997541 | SLC12A3 | c.2587G>T (p.Val863Leu) c.2584G>T (p.Val862Leu) c.2614G>T (p.Val872Leu) c.2611G>T (p.Val871Leu) | |
16 | g.56894597T>A | CA395997543 | SLC12A3 | c.2588T>A (p.Val863Glu) c.2585T>A (p.Val862Glu) c.2615T>A (p.Val872Glu) c.2612T>A (p.Val871Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56894597T>C | CA395997545 | SLC12A3 | c.2588T>C (p.Val863Ala) c.2585T>C (p.Val862Ala) c.2615T>C (p.Val872Ala) c.2612T>C (p.Val871Ala) | |
16 | g.56894597T>G | CA395997546 | SLC12A3 | c.2588T>G (p.Val863Gly) c.2585T>G (p.Val862Gly) c.2615T>G (p.Val872Gly) c.2612T>G (p.Val871Gly) | |
16 | g.56894597T= | CA2224361242 | SLC12A3 | c.2588T= (p.Val863=) c.2585T= (p.Val862=) c.2615T= (p.Val872=) c.2612T= (p.Val871=) | |
16 | g.56894598G>A | CA495612768 | SLC12A3 | c.2589G>A (p.Val863=) c.2586G>A (p.Val862=) c.2616G>A (p.Val872=) c.2613G>A (p.Val871=) | gnomAD v4 |
16 | g.56894598G>C | CA495612769 | SLC12A3 | c.2589G>C (p.Val863=) c.2586G>C (p.Val862=) c.2616G>C (p.Val872=) c.2613G>C (p.Val871=) | |
16 | g.56894598G>T | CA495612770 | SLC12A3 | c.2589G>T (p.Val863=) c.2586G>T (p.Val862=) c.2616G>T (p.Val872=) c.2613G>T (p.Val871=) | |
16 | g.56894599T>A | CA395997549 | SLC12A3 | c.2590T>A (p.Phe864Ile) c.2587T>A (p.Phe863Ile) c.2617T>A (p.Phe873Ile) c.2614T>A (p.Phe872Ile) | |
16 | g.56894599T>C | CA395997550 | SLC12A3 | c.2590T>C (p.Phe864Leu) c.2587T>C (p.Phe863Leu) c.2617T>C (p.Phe873Leu) c.2614T>C (p.Phe872Leu) | |
16 | g.56894599T>G | CA395997551 | SLC12A3 | c.2590T>G (p.Phe864Val) c.2587T>G (p.Phe863Val) c.2617T>G (p.Phe873Val) c.2614T>G (p.Phe872Val) | |
16 | g.56894600T>A | CA395997558 | SLC12A3 | c.2591T>A (p.Phe864Tyr) c.2588T>A (p.Phe863Tyr) c.2618T>A (p.Phe873Tyr) c.2615T>A (p.Phe872Tyr) | |
16 | g.56894600T>C | CA395997556 | SLC12A3 | c.2591T>C (p.Phe864Ser) c.2588T>C (p.Phe863Ser) c.2618T>C (p.Phe873Ser) c.2615T>C (p.Phe872Ser) | |
16 | g.56894600T>G | CA395997553 | SLC12A3 | c.2591T>G (p.Phe864Cys) c.2588T>G (p.Phe863Cys) c.2618T>G (p.Phe873Cys) c.2615T>G (p.Phe872Cys) | |
16 | g.56894601C>A | CA395997560 | SLC12A3 | c.2592C>A (p.Phe864Leu) c.2589C>A (p.Phe863Leu) c.2619C>A (p.Phe873Leu) c.2616C>A (p.Phe872Leu) | |
16 | g.56894601C= | CA2224361243 | SLC12A3 | c.2592C= (p.Phe864=) c.2589C= (p.Phe863=) c.2619C= (p.Phe873=) c.2616C= (p.Phe872=) | |
16 | g.56894601C>G | CA395997561 | SLC12A3 | c.2592C>G (p.Phe864Leu) c.2589C>G (p.Phe863Leu) c.2619C>G (p.Phe873Leu) c.2616C>G (p.Phe872Leu) | |
16 | g.56894601C>T | CA8069973 | SLC12A3 | c.2592C>T (p.Phe864=) c.2589C>T (p.Phe863=) c.2619C>T (p.Phe873=) c.2616C>T (p.Phe872=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56894601_56894602delinsCG | CA2224361244 | SLC12A3 | c.2592_2593delinsCG (p.Phe864=) c.2589_2590delinsCG (p.Phe863=) c.2619_2620delinsCG (p.Phe873=) c.2616_2617delinsCG (p.Phe872=) | |
16 | g.56894603_56894608dup | CA2633374480 | SLC12A3 | c.2594_2599dup (p.Gly866_Gly867insValGly) c.2591_2596dup (p.Gly865_Gly866insValGly) c.2621_2626dup (p.Gly875_Gly876insValGly) c.2618_2623dup (p.Gly874_Gly875insValGly) | gnomAD v4 |
16 | g.56894602del | CA2224361245 | SLC12A3 | c.2593del (p.Val865Ter) c.2590del (p.Val864Ter) c.2620del (p.Val874Ter) c.2617del (p.Val873Ter) | dbSNP |
16 | g.56894602G>A | CA8069974 | SLC12A3 | c.2593G>A (p.Val865Ile) c.2590G>A (p.Val864Ile) c.2620G>A (p.Val874Ile) c.2617G>A (p.Val873Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894602G>C | CA281514374 | SLC12A3 | c.2593G>C (p.Val865Leu) c.2590G>C (p.Val864Leu) c.2620G>C (p.Val874Leu) c.2617G>C (p.Val873Leu) | dbSNP |
16 | g.56894602G= | CA2224361246 | SLC12A3 | c.2593G= (p.Val865=) c.2590G= (p.Val864=) c.2620G= (p.Val874=) c.2617G= (p.Val873=) | |
16 | g.56894602G>T | CA395997569 | SLC12A3 | c.2593G>T (p.Val865Leu) c.2590G>T (p.Val864Leu) c.2620G>T (p.Val874Leu) c.2617G>T (p.Val873Leu) | |
16 | g.56894603T>A | CA395997572 | SLC12A3 | c.2594T>A (p.Val865Glu) c.2591T>A (p.Val864Glu) c.2621T>A (p.Val874Glu) c.2618T>A (p.Val873Glu) | |
16 | g.56894603T>C | CA8069975 | SLC12A3 | c.2594T>C (p.Val865Ala) c.2591T>C (p.Val864Ala) c.2621T>C (p.Val874Ala) c.2618T>C (p.Val873Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894603T>G | CA281514375 | SLC12A3 | c.2594T>G (p.Val865Gly) c.2591T>G (p.Val864Gly) c.2621T>G (p.Val874Gly) c.2618T>G (p.Val873Gly) | dbSNP gnomAD v4 |
16 | g.56894603T= | CA2224361247 | SLC12A3 | c.2594T= (p.Val865=) c.2591T= (p.Val864=) c.2621T= (p.Val874=) c.2618T= (p.Val873=) | |
16 | g.56894604del | CA2739266781 | SLC12A3 | c.2595del (p.Gly866AlafsTer18) c.2592del (p.Gly865AlafsTer18) c.2622del (p.Gly875AlafsTer18) c.2619del (p.Gly874AlafsTer18) | ClinVar |
16 | g.56894604A= | CA2224361248 | SLC12A3 | c.2595A= (p.Val865=) c.2592A= (p.Val864=) c.2622A= (p.Val874=) c.2619A= (p.Val873=) | |
16 | g.56894604A>C | CA8069976 | SLC12A3 | c.2595A>C (p.Val865=) c.2592A>C (p.Val864=) c.2622A>C (p.Val874=) c.2619A>C (p.Val873=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894604A>G | CA495612771 | SLC12A3 | c.2595A>G (p.Val865=) c.2592A>G (p.Val864=) c.2622A>G (p.Val874=) c.2619A>G (p.Val873=) | ClinVar |
16 | g.56894604A>T | CA495612772 | SLC12A3 | c.2595A>T (p.Val865=) c.2592A>T (p.Val864=) c.2622A>T (p.Val874=) c.2619A>T (p.Val873=) | |
16 | g.56894605G>A | CA395997582 | SLC12A3 | c.2596G>A (p.Gly866Ser) c.2593G>A (p.Gly865Ser) c.2623G>A (p.Gly875Ser) c.2620G>A (p.Gly874Ser) | COSMIC |
16 | g.56894605G>C | CA395997584 | SLC12A3 | c.2596G>C (p.Gly866Arg) c.2593G>C (p.Gly865Arg) c.2623G>C (p.Gly875Arg) c.2620G>C (p.Gly874Arg) | |
16 | g.56894605G>T | CA395997587 | SLC12A3 | c.2596G>T (p.Gly866Cys) c.2593G>T (p.Gly865Cys) c.2623G>T (p.Gly875Cys) c.2620G>T (p.Gly874Cys) | |
16 | g.56894606G>A | CA395997589 | SLC12A3 | c.2597G>A (p.Gly866Asp) c.2594G>A (p.Gly865Asp) c.2624G>A (p.Gly875Asp) c.2621G>A (p.Gly874Asp) | |
16 | g.56894606G>C | CA395997591 | SLC12A3 | c.2597G>C (p.Gly866Ala) c.2594G>C (p.Gly865Ala) c.2624G>C (p.Gly875Ala) c.2621G>C (p.Gly874Ala) | |
16 | g.56894606G>T | CA395997592 | SLC12A3 | c.2597G>T (p.Gly866Val) c.2594G>T (p.Gly865Val) c.2624G>T (p.Gly875Val) c.2621G>T (p.Gly874Val) | |
16 | g.56894607C>A | CA495612774 | SLC12A3 | c.2598C>A (p.Gly866=) c.2595C>A (p.Gly865=) c.2625C>A (p.Gly875=) c.2622C>A (p.Gly874=) | |
16 | g.56894607C= | CA2224361249 | SLC12A3 | c.2598C= (p.Gly866=) c.2595C= (p.Gly865=) c.2625C= (p.Gly875=) c.2622C= (p.Gly874=) | |
16 | g.56894607C>G | CA495612773 | SLC12A3 | c.2598C>G (p.Gly866=) c.2595C>G (p.Gly865=) c.2625C>G (p.Gly875=) c.2622C>G (p.Gly874=) | |
16 | g.56894607C>T | CA8069977 | SLC12A3 | c.2598C>T (p.Gly866=) c.2595C>T (p.Gly865=) c.2625C>T (p.Gly875=) c.2622C>T (p.Gly874=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56894607_56894608delinsTA | CA2740093387 | SLC12A3 | c.2598_2599delinsTA (p.Gly867Ser) c.2595_2596delinsTA (p.Gly866Ser) c.2625_2626delinsTA (p.Gly876Ser) c.2622_2623delinsTA (p.Gly875Ser) | ClinVar |
16 | g.56894608G>A | CA8069978 | SLC12A3 | c.2599G>A (p.Gly867Ser) c.2596G>A (p.Gly866Ser) c.2626G>A (p.Gly876Ser) c.2623G>A (p.Gly875Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56894608G>C | CA395997596 | SLC12A3 | c.2599G>C (p.Gly867Arg) c.2596G>C (p.Gly866Arg) c.2626G>C (p.Gly876Arg) c.2623G>C (p.Gly875Arg) | |
16 | g.56894608G= | CA2224361250 | SLC12A3 | c.2599G= (p.Gly867=) c.2596G= (p.Gly866=) c.2626G= (p.Gly876=) c.2623G= (p.Gly875=) | |
16 | g.56894608G>T | CA395997598 | SLC12A3 | c.2599G>T (p.Gly867Cys) c.2596G>T (p.Gly866Cys) c.2626G>T (p.Gly876Cys) c.2623G>T (p.Gly875Cys) | gnomAD v4 |
16 | g.56894609G>A | CA395997600 | SLC12A3 | c.2600G>A (p.Gly867Asp) c.2597G>A (p.Gly866Asp) c.2627G>A (p.Gly876Asp) c.2624G>A (p.Gly875Asp) | |
16 | g.56894609G>C | CA395997605 | SLC12A3 | c.2600G>C (p.Gly867Ala) c.2597G>C (p.Gly866Ala) c.2627G>C (p.Gly876Ala) c.2624G>C (p.Gly875Ala) | |
16 | g.56894609G>T | CA395997602 | SLC12A3 | c.2600G>T (p.Gly867Val) c.2597G>T (p.Gly866Val) c.2627G>T (p.Gly876Val) c.2624G>T (p.Gly875Val) | |
16 | g.56894610C>A | CA495612777 | SLC12A3 | c.2601C>A (p.Gly867=) c.2598C>A (p.Gly866=) c.2628C>A (p.Gly876=) c.2625C>A (p.Gly875=) | |
16 | g.56894610C>G | CA495612776 | SLC12A3 | c.2601C>G (p.Gly867=) c.2598C>G (p.Gly866=) c.2628C>G (p.Gly876=) c.2625C>G (p.Gly875=) | |
16 | g.56894610C>T | CA495612775 | SLC12A3 | c.2601C>T (p.Gly867=) c.2598C>T (p.Gly866=) c.2628C>T (p.Gly876=) c.2625C>T (p.Gly875=) | gnomAD v4 |